Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs10485275
rs10485275
GRIK2
1 1.000 0.040 6 101718178 intron variant G/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs10511668
rs10511668
SAXO1
1 1.000 0.040 9 19022472 intron variant C/T snv 0.35 0.010 1.000 1 2011 2011
dbSNP: rs10514716
rs10514716
LOC105377110
1 1.000 0.040 3 59495862 intron variant A/G snv 9.6E-02 0.010 1.000 1 2011 2011
dbSNP: rs1211942227
rs1211942227
HRG ; LOC105374258
1 1.000 0.040 3 186677347 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1434830576
rs1434830576
CYP7A1
1 1.000 0.040 8 58498449 missense variant A/G snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1671215
rs1671215
RDH13 ; LOC107985325
1 1.000 0.040 19 55041651 3 prime UTR variant C/A snv 0.65 0.010 1.000 1 2015 2015
dbSNP: rs17484063
rs17484063
NR3C2
1 1.000 0.040 4 148243753 intron variant C/T snv 0.14 0.010 1.000 1 2015 2015
dbSNP: rs199574576
rs199574576
GRK4 ; NOP14
1 1.000 0.040 4 2963184 missense variant G/C;T snv 7.5E-05 0.010 1.000 1 2018 2018
dbSNP: rs2033962
rs2033962
ACVR1
1 1.000 0.040 2 157781929 intron variant A/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs2305957
rs2305957
HSPA4L
1 1.000 0.040 4 127811771 intron variant A/G snv 0.67 0.010 1.000 1 2017 2017
dbSNP: rs2883929
rs2883929
NR3C2
1 1.000 0.040 4 148299958 intron variant G/A snv 0.78 0.010 1.000 1 2015 2015
dbSNP: rs341048
rs341048
PDE2A ; PDE2A-AS2
1 1.000 0.040 11 72587236 intron variant C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs37389
rs37389
PRLR
1 1.000 0.040 5 35085078 intron variant G/A;C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs3843549
rs3843549
POU5F1B ; CASC8 ; PCAT1
1 1.000 0.040 8 127398235 intron variant G/A snv 0.88 0.010 1.000 1 2019 2019
dbSNP: rs774484989
rs774484989
PLG
1 1.000 0.040 6 160739148 missense variant A/G snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs769825641
rs769825641
SYCP3 ; CHPT1
2 1.000 0.040 12 101729109 splice region variant A/G snv 5.6E-05 0.010 < 0.001 1 2011 2011
dbSNP: rs764948729
rs764948729
PLG
3 0.925 0.080 6 160731092 missense variant A/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1053023
rs1053023
STAT3
4 0.882 0.120 17 42313598 3 prime UTR variant T/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs1369837875
rs1369837875
PLA2G6
4 0.882 0.200 22 38128276 synonymous variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1371086615
rs1371086615
APC
4 0.851 0.120 5 112828890 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1411224107
rs1411224107
SERPINE1
4 0.882 0.160 7 101128439 missense variant C/T snv 7.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs3738880
rs3738880
GLI2
4 0.882 0.160 2 120989380 missense variant G/T snv 0.63 0.61 0.010 1.000 1 2017 2017
dbSNP: rs569954362
rs569954362
SLC19A1
4 0.851 0.160 21 45530871 synonymous variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs587776454
rs587776454
GATA1
4 0.851 0.160 X 48792346 missense variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs765557332
rs765557332
APC
4 0.851 0.120 5 112835075 missense variant G/A snv 7.0E-06 0.010 1.000 1 2005 2005